Glycine Encephalopathy (Non-Ketotic Hyperglycinemia)
Autoszomális recesszív
Caused by variants in GLDC, AMT or GCSH (and, in an atypical form, SLC6A9), which cause high glycine in the brain and can lead to seizures, low muscle tone and developmental problems.
Mit változtat a diagnózis
Knowing allows treatment with sodium benzoate and dextromethorphan, which can reduce seizures in some forms.
Más néven
GCE; Glycine synthase deficiency; hyperglycinemia nonketotic; NKA; non-ketotic hyperglycinemia
6 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- atypical glycine encephalopathy
- glycine encephalopathy 1
- glycine encephalopathy 2
- infantile glycine encephalopathy
- multiple mitochondrial dysfunctions syndrome 7
- neonatal glycine encephalopathy
